ESPE Abstracts

Steroidogenic factor-1 (SF-1, NR5A1) is a key regulator of adrenal and gonad development, and controls transcription of many genes in these endocrine axes. A role for SF-1/NR5A1 in human endocrine conditions was first established 15 years ago when rare individuals with adrenal hypoplasia and 46,XY DSD (testicular dysgenesis, Müllerian structures) were reported. Although it was felt that adrenal failure would be a key feature of SF-1 disruption, in the pa...

Background: Obese children are often taller than non-obese ones before puberty. Reports on the GH/IGF system in obese children are not consistent and do not explain the increased height observed. Changes in IGF1 bioavailability/bioactivity have been claimed as a possible explanation, however, no data is available regarding the expression of the IGF type 1 receptor (IGF1R) gene.Objective and hypotheses: To study the expression of IGF1R gene in obese child...

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Background: Mixed gonadal dysgenesis (MGD) is the second most frequent cause of XY disorders of sex development (DSD). Genotype is either X/XY or XY, while the phenotype ranges from partial to complete gonadal dysgenesis, and from female to male external genitalia. Müllerian remnants are present in these patients because of insufficient or untimely foetal secretion of Müllerian inhibiting factor (MIF).Aim: To assess the therapeutic policy of ph...

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

Keywords: Bariatric surgery, Pregnancy, Maternal obesity, Small for gestational age, fetal growth, Nutritional deficiencies.Background: Maternal obesity is known to have many detrimental effects on pregnancy. Bariatric surgery represents the most efficient therapy for severe obesity. Although it is known to positively impact many pregnancy outcomes, bariatric surgery can disturb fetal growth due to nutritional deficienci...

Background: Congenital adrenal hyperplasia (CAH) is a disorder, leading to hyperandrogenaemia in the period of organogenesis of external genitalia, resulting in the disorders of sex development(DSD) in 46XX patients where external and internal genitalia do not correspond to each other. The aim of current work is to show the barriers and challenges in a 46XX patient in choosing the sex for up-bringing the child.Case presentation:<...

Background: Crohn’s disease is a relapsing systemic inflammatory disorder with inflammatory bowel disease (IBD) due to up-regulation of pro-inflammatory cytokines including TNFα. More than 80% of newly diagnosed children present with growth failure Paediatric gastroenterology units in the UK submit data to the UK IBD database which can be accessed when required. One aim of current treatment protocols is to promote growth. Studies on the use of anti-TNFα antibodi...

Background: Little is known about the prevalence of neonatal hypoglycaemia in the absence of known risk factors, nor its associated neurodevelopmental outcomes. Neurological harm from hyperinsulinism induced hypoglycaemia (HH) may be due to the direct effect of hypoglycaemia as well as its sequelae, such as seizures or apnoeas, leading to secondary insults such as hypoxic brain injury. With our case series we highlight such risks and propose changes to support...